The Cell Core C is the keystone of the FSHD-Wellstone research activities and will be responsible for the development and maintenance of reagents for its investigators and the FSHD research community at-large. Every project in this proposal will draw from its resources. A FSHD tissue bank (Aim 1) will be established from patients and first-degree family members specifically recruited, screened and enrolled to provide high quality and highly relevant biological specimens. Open muscle biopsies of FSHD muscle and control muscle will be obtained from 3 participating sites: Johns Hopkins, University of Utah and University of Sao Paulo, and distributed to multiple institutions for studies proposed. The Cell and Molecular Lab (Aim 2) of the Core will be located at BBRI and will perform several functions including the establishment of primary and secondary cultures and selected immortalized clonal lines from biopsy materials of FSHD subjects and primary relatives. Additionally, evaluation of biochemical, cell biological, proteomic and molecular data obtained from the relevant cell cultures and immortalized cell lines will be made available to the FSHD scientific community through the establishment of a national resource FSHD muscle cell repository. An FSHD myoblast cell repository (Aim 3) will be established through collaboration with Genzyme/Myosix and an FSHD lymphocyte repository will be established with The Coriell Institute. Finally the Bioinformatics Support Group (Aim 4) will have a large role in this Center, serving all projects as well as individual aspects of the Cell Core. The Bioinformatics Support Group will set-up and maintain a portal for standardizing, managing and sharing data between collaborating laboratories in the Center, and for making data publicly available as a companion to the public myoblast cell repository. It will also perform the computational analysis and modeling of the data produced by Cell Core C, including transcriptomic data, proteomics data, and data from cell-based assays. The Bioinformatics component will use both statistical and machinelearning approaches to identify FSHD biomarkers from across the different data modalities, and will perform integrative analysis, with the goals of understanding the pathways that are disrupted in FSHD and identifying and assessing potential therapeutic targets.